V38L (p.Val38Leu) variant of TMEM43 (Transmembrane protein 43)
V38L (p.Val38Leu) in TMEM43 (Transmembrane protein 43) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
V38L (p.Val38Leu) variant details
- p.Val38Leu
- TOPMed rs977468112
- gnomAD rs977468112
- Uncertain significance
- Missense
- SIFT 0.29
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available